GJA8 c.483T>G ;(p.F161L)

Variant ID: 1-147380565-T-G

NM_005267.4(GJA8):c.483T>G;(p.F161L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)
Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G
Publication Date: 2022-09-01

Variant appearance in text: CAE: F161L
PubMed Link: 36102617
Variant Present in the following documents:
  • develop-149-198853-s1.pdf
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: CAE: F161L
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Vitko, Iuliia I; Chen, Yucai Y; Arias, Juan M JM; Shen, Yen Y; Wu, Xi-Ru XR; Perez-Reyes, Edward E
Publication Date: 2005-05-11

Variant appearance in text: CAE: F161L
PubMed Link: 15888660
Variant Present in the following documents:
  • Main text
View BVdb publication page